Varaico: Literature-Extracted Genetic Variants

SOX8

97 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded p...

Pfam Domains

Sox_Naa 18–89UCSCSox developmental protein N terminal

HMG_boxaa 102–170UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 8

HGNC Previous Names

SRY (sex determining region Y)-box 8; SRY-box 8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014587.5

p.A240T

c.718G>A

Surrounding Variants

1 paper

NM_014587.5

p.K241T

c.722A>C

2 papers

NM_014587.5

p.P242L

c.725C>T

1 paper

NM_014587.5

p.T233T

c.699G>C

1 paper

NM_014587.5

p.K232Q

c.694A>C

1 paper

NM_014587.5

p.P231_K232del2

c.691_695del6

1 paper

NM_014587.5

p.T230I

c.689C>T

1 paper

NM_014587.5

p.T230P

c.688A>C

1 paper

NM_014587.5

p.R250Q

c.749G>A

5 papers

NM_014587.5

p.T229P

c.685A>C

1 paper

NM_014587.5

p.P227P

c.681G>C

5 papers

NM_014587.5

p.T226P

c.676A>C

1 paper

NM_014587.5

p.T226fs

c.676_677fs